Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation

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Ejaz A., ÖZCAN A., ÜNAL E., KARAKÜKCÜ M., Sankaran V. G.

MED, cilt.2, sa.1, ss.33-38, 2021 (ESCI, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.medj.2020.10.001
  • Dergi Adı: MED
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.33-38
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Erciyes Üniversitesi Adresli: Evet

Özet

Background: Recent advances n genomics have enabled the successful identification of a number of rare pathogenic. mutations Uncovering these mutations is essential as the first step toward devising a cure for the often debilitating and life-limiting diseases arising from them For many of these mutations, targeted agents do not yet exist. Here, we describe the case of a patient who has a novel pathogenic mutation n the erythropoietin (EPO) gene, which is essential for normal erythropoiesis, and who presented with a profound hypoplastic anemia.